developmental and epileptic encephalopathy 36

A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 g

A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.

Signs and symptoms

• Abnormal bleeding
• Hypsarrhythmia
• Delayed CNS myelination
• Flexion contracture
• Seizure
• Hypotonia
• Sleep disturbance
• Hepatomegaly
• Coarse facial features
• Infantile spasms

Also known as: congenital disorder of glycosylation, type Is; early infantile epileptic encephalopathy 36